ClinVar

NM_001267550.2(TTN):c.72824A>T (p.Lys24275Ile)

Genes:

TTN-AS1:TTN antisense RNA 1 [Gene - HGNC]
TTN:titin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q31.2

Genomic location:

• Chr2: 178573308 (on Assembly GRCh38)
• Chr2: 179438035 (on Assembly GRCh37)

Preferred name:

NM_001267550.2(TTN):c.72824A>T (p.Lys24275Ile)

Other names:

p.K22634I:AAA>ATA

HGVS:

• NC_000002.12:g.178573308T>A
• NG_011618.3:g.262495A>T
• NG_051363.1:g.55482T>A
• NM_001256850.1:c.67901A>T
• NM_001267550.2:c.72824A>TMANE SELECT
• NM_003319.4:c.45629A>T
• NM_133378.4:c.65120A>T
• NM_133432.3:c.46004A>T
• NM_133437.4:c.46205A>T
• NP_001243779.1:p.Lys22634Ile
• NP_001254479.2:p.Lys24275Ile
• NP_003310.4:p.Lys15210Ile
• NP_596869.4:p.Lys21707Ile
• NP_597676.3:p.Lys15335Ile
• NP_597681.4:p.Lys15402Ile
• LRG_391:g.262495A>T
• NC_000002.11:g.179438035T>A
• NM_133378.4:c.65120A>T

This HGVS expression did not pass validation

Protein change:

K15210I

Links:

dbSNP: rs199860952

NCBI 1000 Genomes Browser:

rs199860952

Molecular consequence:

• NM_001256850.1:c.67901A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001267550.2:c.72824A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_003319.4:c.45629A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_133378.4:c.65120A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_133432.3:c.46004A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_133437.4:c.46205A>T - missense variant - [Sequence Ontology: SO:0001583]